Lynch Syndrome International

LYNCH SYNDROME IS A FAMILY MATTER

Though hereditary cancers have existed throughout the ages, they weren't actively researched by modern medicine until the last fifty years. Physicians wrote about family cancer clusters during the 1800s, however it wasn't until the late 1950s and early 1960s that statistics were used in hereditary cancer research to establish the actual existence of hereditary cancers.

In the early 1960s, Dr. Henry T. Lynch was a resident at the University College of Medicine in Omaha, Nebraska. Following pursuit of a PhD in genetics, which was abandoned in pursuit of aspirations to become a physician and work with genetics in the field of "clinical applications," he had graduated from medical school and was working as a clinical physician within a setting that allowed research opportunities.

His interest in genetic cancers began shortly after arrival. He was asked to consult on a patient of Charles Magnuson, a gastroenterologist who practiced at the Omaha Veteran's Administration Hospital. That particular individual possessed an extensive family history of cancer and was thought to have FAP, a hereditary colon cancer that produces thousands of polyps.

Lynch immediately realized an extensive family history of colon cancer did exist, however noted the cancers were not consistent with FAP as there were not the usual numerous polyps, characteristic with the syndrome. He suspected another hereditary cancer may exist.

Lynch presented his findings to the American Society of Human Genetics in 1964. In 1966, he and members of a team he established found two different families with the same type of cancer. They published a paper on this phenomenon which was referred to as CFS or the Cancer Family Syndrome, now known as Lynch syndrome (hereditary non-polyposis colon cancer - HNPCC).

Fortunately, for Lynch, he had experience with the theory of hereditary cancers. His former mentor in Austin, Texas, Clarence Oliver, was one of the first to begin to work on establishing the theories of hereditary human cancers. Prior to that time only animals were studied. Therefore, when Lynch became acquainted with his first initial occurrence with familial cancers, he knew how to study it in detail.

Lynch doggedly researched the phenomenon. At night and on weekends he would drive into rural areas and speak with families known to have a "family cancer." Maintaining clear, concise notes and data, he continued his research but not without opposition.

Despite evidence he had discovered and meticulously documented, critics suggested his research was not accurate and he had not taken into consideration the environment or viruses as a cause for the clusters. A government study team expressed strong doubt as to his findings. Some peers labeled his work as "problematic," and while presenting his findings in Europe he was confronted and told the syndrome he founded was simply FAP with different characteristics.

Lynch began to realize and see a considerable amount of the "nay saying" was a result of discrimination against the "farm state research teams" by the noted New England research facilities. He began to focus his research more in Nebraska and the Midwest and to gain his support there.

As doubts continued, Dr. Lynch exercised the "old American pioneer spirit" and only worked harder to prove this theory, taking into consideration the interplay between environment, social factors and disease. Nebraska physicians supported him and lead him toward more families which possessed the syndrome. He continued to work day and night to identify and study these families.

A number of researchers may have stopped at simply identifying the syndrome. However, for Dr. Lynch, it simply wasn't enough. He and his entire family dedicated themselves toward those with Lynch syndrome and they sacrificed greatly to protect and save the lives of us and our families.

Dr. Lynch had an insatiable desire to learn how to control the syndrome and treat the cancers. He endeavored to explore it further in order to help those with Lynch syndrome and the immense feeling of hopelessness. Not only did he delve into the genetics of Lynch syndrome but through his constant personal interraction with thousands of families, Dr. Lynch became family with the psychological difficulties individuals with Lynch syndrome sustain and noted individuals needed hope in order to acknowledge the syndrome. If there was no treatment and simply a difficult death, then individuals chose denial as an option.

Arguments changed from whether or not Lynch syndrome existed to whether or not it was beneficial to the patient to know about the existence of the mutated gene and the predisposition to various cancers. Researchers changed their tone, admitting the syndrome did appear actual, however they weren't certain the research was beneficial as they feared the patient would become fatalistic instead of seeking early treatment. From their perspective, it was often better to deny hereditary cancer existed or for the person to know, a situation we often see occurring with physicians even today, despite the existence of surveillance guidelines and advanced technology which can protect families and save lives.

Dr. Lynch envisioned a statewide network to care for our families, which included testing, a registry, treatment centers and ongoing surveillance for early prevention. The care focused on the family physician being the first line of defense for individuals with this syndrome. The physician needed to be both physician and teacher to the patient and act as the central figure to the patient--making referrals to specialists, making certain the proper cancer screening tests occurred and removing or treating the early detected cancers before they became life threatening.

In 1969, on the East Coast, a young medical student named Clement Richard Boland advised his instructors there was a strong family history of cancer within his own family which he believed to be genetic. He, too, was told it was impossible to have a hereditary disease of cancer without multiple polyps. He, like Dr. Lynch, set out to discover the truth, finding another family just like his.

In 1972, Boland and Lynch finally met. Both continued research on Lynch syndrome and finally, it was accepted by the medical community, after family, after family had been found. Since, Dr. Lynch's son, Patrick, has joined the research efforts, as well as many other dedicated individuals, including Dr. Stephen Gruber from Michigan State, Dr. Randall Burt from Huntsman Institute, Dr. Bill Grady and Dr. Stephen Potter from Fred Hutchinson in Seattle, Dr. J. Terdiman at UCSF, Heather Hampel and Dr. Albert De La Chapelle at Ohio State, Dr. Karen Lu and Dr. Rodrigas Bigas at MD Anderson in Houston, Dr. Hans Vasen in the Netherlands, Dr. Syngal of Dana Farber and many, many more. Before their dogged efforts to prove this hereditary condition existed, entire families were wiped out. Their research has provided the technology so we can live.